Over the past year, the Genetics Services Research Unit has completed several investigations in genetic counseling related research. In one cross-sectional study of adults with Neurofibromatosis Type 1 (NF1) we assessed the role of illness perceptions and stigma on adaptation and Quality of Life. The Transactional Model of Stress and Coping was used to inform the study design. A total of 482 participants completed a web-based survey. Validated measures of the key constructs included the Quality of Life Index, Center for Epidemiologic Studies Depression Scale, Illness Perception Questionnaire, Perceived Social Stigmatization Scale, and a new measure of adaptation. Multivariate regression modeling was used to test the hypotheses that more positive perceptions of NF1 and lower perceived stigma were associated with greater adaptation and higher QoL. Results confirmed decreased QoL and revealed a high prevalence of depression (55%). Level of depressive symptoms accounted for 31% of the variance in QoL. Fewer perceived negative consequences, less negative emotional appraisals, higher perceived control, and lower stigma were associated (p<0.001) with greater levels of adaptation and higher QoL, even after controlling for depressive symptoms and demographic characteristics. These findings suggest that increased screening and treatment of depression may lead to substantial improvement in QoL. Furthermore, illness perceptions and social stigma may serve as potent targets for future genetic counseling interventions aimed at facilitating adaptation and enhancing QoL among adults with NF1. Another experimental design study of irritable bowel syndrome was framed by Leventhals Common Sense Model of Self-Regulation. The study aim was to assess how individuals cognitively and emotionally represent their illness in response to the threat of chronic disease, and how these representations predict responses to hypothetical clinical testing scenarios. Participants were randomized to a vignette depicting either a genetic testing scenario or a standard blood testing scenario. Participants were asked a series of appraisal questions about the person in the vignette and appraisals were compared between the two vignettes. Also, participants perceptions of their own illness were assessed and analyzed as predictors of their response to the two vignettes. Finally, a measure of genetic literacy was incorporated to examine whether genetic literacy is a predictor of response to the vignettes. Two hundred participants were placed into two groups that were comparable across demographic, disease-related and situational variables, as well as illness perceptions and genetic literacy. Differences were not observed in perceived control over IBD following a positive test result for the person in the vignette, nor were affective responses to the vignette (positive or negative feelings) different between the two groups. Participants were able to extrapolate information and applications offered uniquely by the genetic testing vignette. Though overall outcomes were not largely different, the factors predictive of those outcomes did differ between the two testing scenarios. A third cross-sectional study investigated the relationships between levels of perceived uncertainty, hope, and adaptation in caregivers of children with DS, as informed by the Transactional Model of Stress and Coping, Mishels Uncertainty in Illness Theory, and Snyders conceptualization of hope. The hope that caregivers had for their child in specific goal categories was also measured. A total of 546 participant surveys were eligible for analysis. Caregiver hope and adaptation were positively correlated (r=0.326, p<0.001), while perceived uncertainty was negatively associated with both hope and adaptation (r=-0.319, -0.188, p<0.001). Multivariate analyses revealed that perceived uncertainty and hope were significant predictors of caregiver adaptation (p=0.05 and p<0.001, respectively), with hope being the largest contributor to the variance in adaptation. For each of the goal categories, caregivers motivation to reach goals for their child was significantly higher than their ability to think of ways to meet those goals. While the ability to think of ways to reach goals was significantly related to adaptation levels, motivation was not. Findings from this study suggest that caregivers levels of hope and perceived uncertainty may be important concepts in the process of psychosocial adaptation. Although additional studies are needed, counseling strategies aimed at strengthening hope and reducing perceptions of uncertainty may increase caregiver adaptation